A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15790652



Internal ID19862715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147041150..147052444hg38UCSC Ensembl
chr5:146420713..146432007hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3811295
hg1911295
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4335117
Supporting Variants
Samples
Known GenesPPP2R2B
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15790652
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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